Literature DB >> 26933868

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance.

Manuel Schiff1, Alice Veauville-Merllié2, Chen Hsien Su3, Alexander Tzagoloff3, Malgorzata Rak1, Hélène Ogier de Baulny1, Audrey Boutron4, Hélène Smedts-Walters5, Norma B Romero6, Odile Rigal1, Pierre Rustin1, Christine Vianey-Saban7, Cécile Acquaviva-Bourdain7.   

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Year:  2016        PMID： 26933868      PMCID： PMC4867164          DOI： 10.1056/NEJMc1513610

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  5 in total

1.  Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency.

Authors:  András N Spaan; Lodewijk Ijlst; Carlo W T van Roermund; Frits A Wijburg; Ronald J A Wanders; Hans R Waterham
Journal:  Mol Genet Metab       Date:  2005-09-13       Impact factor: 4.797

2.  Electron transfer flavoprotein deficiency: functional and molecular aspects.

Authors:  Manuel Schiff; Roseline Froissart; Rikke K J Olsen; Cécile Acquaviva; Christine Vianey-Saban
Journal:  Mol Genet Metab       Date:  2006-02-28       Impact factor: 4.797

3.  Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene.

Authors:  Stephen I Goodman; Robert J Binard; Michael R Woontner; Frank E Frerman
Journal:  Mol Genet Metab       Date:  2002 Sep-Oct       Impact factor: 4.797

4.  FLX1 codes for a carrier protein involved in maintaining a proper balance of flavin nucleotides in yeast mitochondria.

Authors:  A Tzagoloff; J Jang; D M Glerum; M Wu
Journal:  J Biol Chem       Date:  1996-03-29       Impact factor: 5.157

5.  Riboflavin uptake and FAD synthesis in Saccharomyces cerevisiae mitochondria: involvement of the Flx1p carrier in FAD export.

Authors:  Valeria Bafunno; Teresa Anna Giancaspero; Carmen Brizio; Daniela Bufano; Salvatore Passarella; Eckhard Boles; Maria Barile
Journal:  J Biol Chem       Date:  2003-10-10       Impact factor: 5.157
  5 in total
  25 in total

Review 1.  Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.

Authors:  Kenji Yamada; Takeshi Taketani
Journal:  J Hum Genet       Date:  2018-11-06       Impact factor: 3.172

Review 2.  Riboflavin transport and metabolism in humans.

Authors:  Maria Barile; Teresa Anna Giancaspero; Piero Leone; Michele Galluccio; Cesare Indiveri
Journal:  J Inherit Metab Dis       Date:  2016-06-06       Impact factor: 4.982

3.  Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype.

Authors:  Debby M E I Hellebrekers; Suzanne C E H Sallevelt; Tom E J Theunissen; Alexandra T M Hendrickx; Ralph W Gottschalk; Janneke G J Hoeijmakers; Daphna D Habets; Jörgen Bierau; Kees G Schoonderwoerd; Hubert J M Smeets
Journal:  Eur J Hum Genet       Date:  2017-04-26       Impact factor: 4.246

4.  Formate rescues neural tube defects caused by mutations in Slc25a32.

Authors:  Jimi Kim; Yunping Lei; Jin Guo; Sung-Eun Kim; Bogdan J Wlodarczyk; Robert M Cabrera; Ying Linda Lin; Torbjorn K Nilsson; Ting Zhang; Aiguo Ren; Linlin Wang; Zhengwei Yuan; Yu-Fang Zheng; Hong-Yan Wang; Richard H Finnell
Journal:  Proc Natl Acad Sci U S A       Date:  2018-04-16       Impact factor: 11.205

Review 5.  Alteration of Flavin Cofactor Homeostasis in Human Neuromuscular Pathologies.

Authors:  Maria Tolomeo; Alessia Nisco; Maria Barile
Journal:  Methods Mol Biol       Date:  2021

6.  Combined isobutyryl-CoA and multiple acyl-CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis.

Authors:  Albina Tummolo; Piero Leone; Maria Tolomeo; Rita Solito; Matteo Mattiuzzo; Francesca Romana Lepri; Tania Lorè; Roberta Cardinali; Donatella De Giovanni; Simonetta Simonetti; Maria Barile
Journal:  JIMD Rep       Date:  2022-05-07

7.  Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency.

Authors:  Bushra Al Shamsi; Fathiya Al Murshedi; Asila Al Habsi; Khalid Al-Thihli
Journal:  Eur J Hum Genet       Date:  2021-11-12       Impact factor: 5.351

Review 8.  Electron transfer flavoprotein and its role in mitochondrial energy metabolism in health and disease.

Authors:  Bárbara J Henriques; Rikke Katrine Jentoft Olsen; Cláudio M Gomes; Peter Bross
Journal:  Gene       Date:  2021-01-13       Impact factor: 3.688

Review 9.  Biological Properties of Vitamins of the B-Complex, Part 1: Vitamins B1, B2, B3, and B5.

Authors:  Marcel Hrubša; Tomáš Siatka; Iveta Nejmanová; Marie Vopršalová; Lenka Kujovská Krčmová; Kateřina Matoušová; Lenka Javorská; Kateřina Macáková; Laura Mercolini; Fernando Remião; Marek Máťuš; Přemysl Mladěnka
Journal:  Nutrients       Date:  2022-01-22       Impact factor: 5.717

10.  Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.

Authors:  Rikke K J Olsen; Eliška Koňaříková; Teresa A Giancaspero; Signe Mosegaard; Veronika Boczonadi; Lavinija Mataković; Alice Veauville-Merllié; Caterina Terrile; Thomas Schwarzmayr; Tobias B Haack; Mari Auranen; Piero Leone; Michele Galluccio; Apolline Imbard; Purificacion Gutierrez-Rios; Johan Palmfeldt; Elisabeth Graf; Christine Vianey-Saban; Marcus Oppenheim; Manuel Schiff; Samia Pichard; Odile Rigal; Angela Pyle; Patrick F Chinnery; Vassiliki Konstantopoulou; Dorothea Möslinger; René G Feichtinger; Beril Talim; Haluk Topaloglu; Turgay Coskun; Safak Gucer; Annalisa Botta; Elena Pegoraro; Adriana Malena; Lodovica Vergani; Daniela Mazzà; Marcella Zollino; Daniele Ghezzi; Cecile Acquaviva; Tiina Tyni; Avihu Boneh; Thomas Meitinger; Tim M Strom; Niels Gregersen; Johannes A Mayr; Rita Horvath; Maria Barile; Holger Prokisch
Journal:  Am J Hum Genet       Date:  2016-06-02       Impact factor: 11.025
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